Canonical Allele Identifier: CA1583144582
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393788T= , CM000667.2:g.132393788T= GRCh38
NC_000005.9:g.131729480T= , CM000667.1:g.131729480T= GRCh37
NC_000005.8:g.131757379T= NCBI36
NG_008982.1:g.29080T=
NG_008982.2:g.29085T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-397T= ENSP00000388838.2:n.1292-397T=
ENST00000435065.7:c.1635T= ENSP00000402760.2:p.Ile545=
ENST00000448810.6:c.*415T= ENSP00000401860.2:n.*415T=
ENST00000685543.1:n.1704T=
ENST00000686757.1:c.*727T= ENSP00000510721.1:n.*727T=
ENST00000686868.1:n.555T=
ENST00000687740.1:n.4248T=
ENST00000688151.1:n.2873T=
ENST00000689271.1:c.1410T= ENSP00000510797.1:p.Ile470=
ENST00000690900.1:c.*727T= ENSP00000510703.1:n.*727T=
ENST00000692212.1:n.4703T=
ENST00000692355.1:c.816T=
ENST00000692413.1:c.1545T= ENSP00000509374.1:p.Ile515=
ENST00000692825.1:c.1631T= ENSP00000509447.1:n.1631T=
ENST00000693308.1:c.1611T= ENSP00000509770.1:p.Ile537=
ENST00000693763.1:n.2723T=
ENST00000245407.8:c.1563T= MANE Select ENSP00000245407.3:p.Ile521=
ENST00000245407.7:c.1563T= ENSP00000245407.3:p.Ile521=
ENST00000435065.6:c.1635T= ENSP00000402760.2:p.Ile545=
ENST00000447841.5:c.407T=
ENST00000448810.5:c.825T=
ENST00000461013.5:n.8985T=
ENST00000475308.1:n.2241T=
NM_001308122.1:c.1635T= NP_001295051.1:p.Ile545=
NM_003060.3:c.1563T= NP_003051.1:p.Ile521=
XM_011543590.1:c.945T= XP_011541892.1:p.Ile315=
XR_948290.1:n.1689T=
XM_011543590.2:c.945T= XP_011541892.1:p.Ile315=
XM_017009778.2:c.1035T= XP_016865267.1:p.Ile345=
XR_001742215.1:n.1818T=
XR_001742216.1:n.1837T=
XR_427718.2:n.1923T=
XR_948290.2:n.1689T=
XR_948291.2:n.1917T=
NM_003060.4:c.1563T= MANE Select NP_003051.1:p.Ile521=
NM_001308122.2:c.1635T= NP_001295051.1:p.Ile545=